A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537623



Internal ID15161447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7432290..7440399hg38UCSC Ensembl
Innerchr4:7434017..7442126hg19UCSC Ensembl
Innerchr4:7484918..7493026hg18UCSC Ensembl
Innerchr4:7552089..7560197hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388110
hg198110
hg188109
hg178109
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461205
Supporting Variants
SamplesHGDP00774
Known GenesPSAPL1, SORCS2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537623
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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